P42679
SS
Gene name |
MATK (CTK, HYL) |
Protein name |
Megakaryocyte-associated tyrosine-protein kinase |
Names |
EC 2.7.10.2 , CSK homologous kinase , CHK , Hematopoietic consensus tyrosine-lacking kinase , Protein kinase HYL , Tyrosine-protein kinase CTK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4145 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
The kinase Csk is the primary negative regulator of the Src‐family kinases (SFKs, e.g., Lck, Fyn, Lyn, Hck, Fgr, Blk, Yes). Csk phosphorylates a tyrosine on the SFK C‐terminal tail that mediates autoinhibition. Csk is recruited to membrane-anchored SFKs and activated allosterically via its SH2 domain, which binds SFK- phosphorylated motifs in CBP/PAG1 (Csk binding protein/phosphoprotein associated with glycosphingolipid- enriched microdomains), Paxillin, Fak, the Dok family, and other tyrosine-phosphorylated proteins. Csk also binds phosphatases, including PTPN12 (PTP‐PEST) and immune‐cell PTPN22 (LYP/Pep), which dephosphorylate SFK activation loop to promote autoinhibition. <br> Purified Csk homodimerizes in competition with PTPN22 binding through an interface that is mediated by symmetrical SH3-SH3 interactions and that overlaps the phosphatase binding footprint. Mutation in SH3 impairing homodimerization enhances PTPN22 binding.
Autoinhibitory domains (AIDs)
Target domain |
48-110 (SH3 domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
235-482 (Protein kinase domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
369-389 (Activation loop from InterPro)
Target domain |
235-482 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
369-389 (Activation loop from InterPro)
Target domain |
235-482 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Brian BF 4th et al. (2022) "SH3-domain mutations selectively disrupt Csk homodimerization or PTPN22 binding", Scientific reports, 12, 5875
- Hong E et al. (2004) "Solution structure and backbone dynamics of the non-receptor protein-tyrosine kinase-6 Src homology 2 domain", The Journal of biological chemistry, 279, 29700-8
- Ko S et al. (2009) "Structural basis of the auto-inhibition mechanism of nonreceptor tyrosine kinase PTK6", Biochemical and biophysical research communications, 384, 236-42
- Qiu H et al. (2002) "Regulation of the nonreceptor tyrosine kinase Brk by autophosphorylation and by autoinhibition", The Journal of biological chemistry, 277, 34634-41
- Ghose R et al. (2001) "A novel, specific interaction involving the Csk SH3 domain and its natural ligand", Nature structural biology, 8, 998-1004
Autoinhibited structure
Activated structure
4 structures for P42679
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1JWO | X-ray | 250 A | A | 117-213 | PDB |
| 1X6G | NMR | - | A | 41-108 | PDB |
| 3US4 | X-ray | 150 A | A | 117-213 | PDB |
| AF-P42679-F1 | Predicted | AlphaFoldDB |
429 variants for P42679
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs774584750 CA9085858 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085855 rs368540633 |
4 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9085854 rs769759269 |
4 | R>Q | No |
ClinGen ExAC |
|
|
rs781021422 CA9085852 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781021422 CA9085853 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403388048 rs1158187719 |
6 | S>A | No |
ClinGen gnomAD |
|
|
CA9085851 rs754460170 |
6 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs751041370 CA9085850 |
8 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403388033 rs1568408057 |
9 | S>T | No |
ClinGen Ensembl |
|
|
rs779686539 CA9085849 |
9 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201457859 CA9085845 |
11 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201457859 CA9085846 |
11 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375541440 CA9085847 |
11 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599201021 CA403388006 |
12 | A>G | No |
ClinGen Ensembl |
|
|
CA9085844 rs753209638 |
13 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs774299917 CA9085841 |
15 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151078102 CA9085843 |
15 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9085842 rs151078102 |
15 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304428074 rs774299917 |
15 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403387919 rs1331453373 |
17 | D>V | No |
ClinGen gnomAD |
|
|
CA9085839 rs771100523 |
23 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085838 rs763245298 |
23 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771100523 CA403387824 |
23 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403387809 rs758085801 |
24 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049336536 CA304428031 |
24 | R>L | No |
ClinGen TOPMed |
|
|
rs1049336536 CA403387796 |
24 | R>P | No |
ClinGen TOPMed |
|
|
rs1049336536 CA403387797 |
24 | R>Q | No |
ClinGen TOPMed |
|
|
CA9085837 rs758085801 |
24 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM439353 COSM439354 CA9085806 rs749036644 |
26 | S>R | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA304427904 rs954749598 |
27 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9085805 rs781388516 |
28 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403387682 rs1568407864 |
28 | R>P | No |
ClinGen Ensembl |
|
|
rs372220680 CA304427903 |
29 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403387650 rs1432135911 |
31 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9085804 rs755409417 |
31 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172349344 CA403387644 |
32 | A>T | No |
ClinGen gnomAD |
|
|
CA403387601 rs1599200663 |
34 | H>P | No |
ClinGen Ensembl |
|
|
rs751968482 CA403387593 |
34 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403387604 rs1599200672 |
34 | H>Y | No |
ClinGen Ensembl |
|
|
rs1248856122 CA403387583 |
35 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564635842 CA9085802 |
36 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1248828504 CA403387577 |
36 | P>S | No |
ClinGen gnomAD |
|
|
CA403387575 rs1248828504 |
36 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750532357 CA9085800 |
38 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403387554 rs750532357 |
38 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202992466 CA403387489 |
42 | M>I | No |
ClinGen TOPMed |
|
|
rs1442682411 CA403387501 |
42 | M>L | No |
ClinGen gnomAD |
|
|
CA403387480 rs1344199089 |
43 | P>R | No |
ClinGen gnomAD |
|
|
rs1207427813 CA403387483 |
43 | P>S | No |
ClinGen gnomAD |
|
|
rs202076593 CA9085799 |
44 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202076593 CA403387469 |
44 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304427639 rs905138590 |
46 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753971669 CA9085779 |
46 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA304427635 rs1045379092 |
47 | W>R | No |
ClinGen Ensembl |
|
|
rs1268544920 CA403387328 |
49 | P>L | Variant assessed as Somatic; 6.907e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403387334 rs1464221806 |
49 | P>S | No |
ClinGen gnomAD |
|
|
rs760330474 CA9085777 |
51 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9085775 rs767367664 |
53 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1599200046 CA403387260 |
55 | T>P | No |
ClinGen Ensembl |
|
|
CA403387235 rs1599200000 |
57 | C>G | No |
ClinGen Ensembl |
|
|
rs774312530 CA9085773 |
57 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403387223 rs1435016381 |
58 | E>Q | No |
ClinGen gnomAD |
|
|
rs1051988647 CA304427615 |
60 | T>P | No |
ClinGen Ensembl |
|
|
CA9085772 rs770306944 |
61 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085771 rs762544633 |
61 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403387178 rs762544633 |
61 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA403387175 rs762544633 |
61 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA403387172 rs1407221674 |
62 | P>S | No |
ClinGen gnomAD |
|
|
CA9085769 rs769488913 |
63 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9085766 rs148583959 |
70 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9085764 rs145727316 |
70 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145727316 CA9085765 |
70 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9085767 rs148583959 |
70 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753856833 CA304427590 |
71 | K>N | No |
ClinGen Ensembl |
|
|
CA9085761 rs576620828 |
73 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403387039 rs1360890815 |
73 | D>N | No |
ClinGen gnomAD |
|
|
rs756357072 CA9085760 |
74 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085758 rs377701442 |
75 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9085757 rs759357581 |
76 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1294275610 CA403386955 |
79 | E>V | No |
ClinGen gnomAD |
|
|
rs1438899258 CA403386948 |
80 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403386950 rs1438899258 |
80 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751449121 CA9085756 |
80 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 82 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9085754 rs762301988 |
82 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403386924 rs762301988 |
82 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 82 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9085731 rs763855430 |
83 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA403386832 rs1288031753 |
85 | S>N | No |
ClinGen gnomAD |
|
|
rs1229244648 CA403386783 |
87 | Y>* | No |
ClinGen gnomAD |
|
|
rs759916673 CA9085730 |
88 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774774723 CA9085729 COSM178798 |
89 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1401471730 CA403386670 |
93 | T>I | No |
ClinGen gnomAD |
|
|
CA9085727 rs144597920 |
96 | Q>R | No |
ClinGen ESP ExAC |
|
|
rs888771706 CA403386595 |
97 | E>D | No |
ClinGen TOPMed |
|
|
rs1472091129 CA403386585 |
98 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 101 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773633572 CA9085726 |
103 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085725 rs373715019 |
104 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9085722 rs140685090 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781322838 CA9085723 |
106 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9085721 rs747250950 |
107 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9085719 rs758163608 |
108 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403386474 rs1463770034 |
108 | R>W | No |
ClinGen gnomAD |
|
|
rs1568407220 CA403386444 |
111 | L>V | No |
ClinGen Ensembl |
|
|
rs753406082 CA9085715 |
113 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753406082 CA304427431 |
113 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085713 rs760392875 |
114 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775055034 CA9085712 |
115 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs199767504 CA9085711 |
116 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403386400 rs1386750423 |
118 | S>N | No |
ClinGen gnomAD |
|
|
COSM566043 rs773709945 CA9085709 COSM566042 |
121 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773709945 CA403386378 |
121 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403386362 rs1273911625 |
122 | W>* | No |
ClinGen gnomAD |
|
|
CA403386352 rs1215089268 |
123 | F>S | No |
ClinGen gnomAD |
|
|
rs775727448 CA304427265 |
124 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403386348 rs1341137244 |
124 | H>Y | No |
ClinGen gnomAD |
|
|
CA9085684 rs772191344 |
125 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085683 rs746172779 |
126 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA403386317 rs1304406836 |
128 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403386316 rs1457650257 |
129 | G>S | No |
ClinGen TOPMed |
|
|
rs1348761744 CA403386307 |
130 | Q>P | No |
ClinGen gnomAD |
|
|
rs1391348287 CA403386296 |
131 | E>D | No |
ClinGen TOPMed |
|
|
CA403386292 rs1369407261 |
132 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9085680 rs749206442 |
132 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 135 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172401753 CA403386261 |
137 | Q>* | No |
ClinGen gnomAD |
|
|
CA9085675 rs754573229 |
140 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA304427222 rs889961757 |
147 | R>Q | No |
ClinGen Ensembl |
|
|
CA304427224 rs372255412 |
147 | R>W | No |
ClinGen ESP TOPMed |
|
|
CA9085672 rs757647539 |
148 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403385734 rs1247361303 |
148 | E>Q | No |
ClinGen TOPMed |
|
|
CA403385726 rs1599199199 |
149 | S>A | No |
ClinGen Ensembl |
|
|
CA9085670 rs760743344 |
150 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9085669 COSM3200717 rs760743344 COSM3200716 |
150 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9085668 rs201406618 |
150 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9085666 rs759655854 |
151 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759655854 CA403385719 |
151 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1257384 rs1323786973 CA403385717 COSM1257383 |
151 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA403385711 rs1599199163 |
152 | H>P | No |
ClinGen Ensembl |
|
|
rs972758266 CA403385699 |
154 | G>A | No |
ClinGen gnomAD |
|
|
CA304427177 rs972758266 |
154 | G>D | No |
ClinGen gnomAD |
|
|
rs200600761 CA304427179 |
154 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200600761 CA9085663 |
154 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403385697 COSM1392577 rs1427032030 COSM1392576 |
155 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1427032030 CA403385695 |
155 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769612489 CA403385683 |
156 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304427176 rs148054130 |
157 | V>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs141805265 CA9085660 |
157 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1470548137 CA403385677 |
158 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 159 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330705409 CA403385668 |
159 | C>S | No |
ClinGen TOPMed |
|
|
rs1226170427 CA403385664 |
160 | V>L | No |
ClinGen TOPMed |
|
|
CA304427169 rs374103319 |
161 | S>G | No |
ClinGen Ensembl |
|
|
CA9085658 rs754553673 |
163 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9085656 rs200227296 |
164 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9085655 rs757557334 |
164 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085657 rs200227296 |
164 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM474640 rs764228405 CA304427160 COSM474639 |
165 | D>N | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9085652 COSM3388918 rs756570197 COSM3388917 |
166 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA403385588 rs759720167 CA9085649 |
169 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774669158 CA9085648 |
170 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403385585 rs774669158 |
170 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328101549 CA403385579 |
170 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9085646 rs780293040 |
171 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs141544705 CA9085645 |
174 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200952635 CA9085644 |
174 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775241091 CA304427129 |
175 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085642 rs776657751 |
175 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403385489 rs1407651400 |
176 | G>S | No |
ClinGen TOPMed |
|
|
CA403385464 rs746533146 |
177 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA9085640 rs746533146 |
177 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs758044050 CA9085638 |
180 | I>V | No |
ClinGen ExAC |
|
|
rs547868630 CA403385404 |
181 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547868630 CA9085637 |
181 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1162800209 CA403385382 |
182 | E>D | No |
ClinGen gnomAD |
|
|
CA403385378 rs1445200122 |
183 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777981970 CA9085636 |
184 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085635 rs756543042 |
185 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1205767508 CA403385354 |
185 | F>L | No |
ClinGen TOPMed |
|
|
CA9085634 rs200655751 |
187 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403385289 rs1370673543 |
188 | N>H | No |
ClinGen gnomAD |
|
|
rs766622983 CA403385249 |
190 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9085630 rs766622983 |
190 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs750697016 CA9085628 |
192 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1247469791 CA403385207 |
192 | M>V | No |
ClinGen TOPMed |
|
|
rs534302482 CA9085627 |
194 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1314450491 CA403384700 |
196 | Y>C | No |
ClinGen TOPMed |
|
|
CA403384675 rs1568406512 |
198 | K>N | No |
ClinGen Ensembl |
|
|
CA403384640 rs534419325 |
202 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9085590 rs534419325 |
202 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1461106827 CA403384592 |
209 | R>K | No |
ClinGen gnomAD |
|
|
rs893137934 CA304426708 |
211 | K>Q | No |
ClinGen TOPMed |
|
|
CA9085588 rs138508775 |
212 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778924826 CA9085589 |
212 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304426703 rs188979667 |
214 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9085586 rs763848662 |
214 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9085584 rs752582397 |
215 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3404162 COSM3404161 rs767457416 CA9085583 |
218 | S>L | kidney Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773909929 CA9085581 |
220 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9085580 rs765853332 COSM1680518 COSM302623 |
221 | E>* | central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs773029722 CA9085578 |
223 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1365048988 CA403384495 |
225 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779864879 CA304424286 |
226 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403384488 rs1468017188 |
226 | A>S | No |
ClinGen TOPMed |
|
|
rs779864879 CA9085541 |
226 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 229 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9085539 rs749945716 |
231 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182449378 CA403383215 |
231 | N>S | No |
ClinGen gnomAD |
|
|
CA403383193 rs1306137768 |
233 | Q>R | No |
ClinGen TOPMed |
|
|
rs1323863788 CA403383137 |
236 | T>I | No |
ClinGen gnomAD |
|
|
rs761538078 CA9085537 |
236 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774864395 CA9085533 |
242 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771185238 CA9085532 |
243 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM98935 CA9085530 rs769899759 |
243 | E>A | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403383007 rs1380983678 |
243 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9085529 rs769899759 |
243 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769899759 CA9085531 |
243 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748327938 CA9085528 |
244 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA403382985 rs1421131015 |
245 | E>K | No |
ClinGen TOPMed |
|
|
rs781290611 CA9085527 |
247 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781290611 CA304424217 |
247 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362977451 CA403382279 |
250 | L>P | No |
ClinGen gnomAD |
|
|
rs1271988676 CA403382245 |
253 | E>D | No |
ClinGen gnomAD |
|
|
rs1568405010 CA403382252 |
253 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA304423343 rs372177660 |
256 | G>W | No |
ClinGen ESP TOPMed |
|
|
rs758783413 CA9085494 |
257 | Q>H | No |
ClinGen ExAC |
|
|
CA403382196 rs1302415207 |
258 | K>N | No |
ClinGen gnomAD |
|
|
CA403382177 rs1395949732 |
261 | V>M | No |
ClinGen Ensembl |
|
|
rs1223072965 CA403382153 |
263 | N>S | No |
ClinGen TOPMed |
|
|
rs765737254 CA9085491 |
267 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9085490 rs762369358 |
268 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764281495 CA9085488 |
271 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA403382071 rs1207879688 |
272 | A>T | No |
ClinGen TOPMed |
|
|
CA403382028 rs1458220545 |
276 | E>K | No |
ClinGen TOPMed |
|
|
COSM3404160 rs1489778655 COSM3404159 CA403382009 |
277 | T>M | central_nervous_system Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 278 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403382000 rs1260174266 |
279 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9085483 rs774364737 |
281 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9085484 rs745672640 |
281 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1158963735 CA403381915 |
283 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369836671 CA304423170 |
285 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9085444 rs766239789 |
286 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751873691 CA9085445 |
286 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762816997 CA403381832 CA403381831 |
287 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9085442 rs201691967 |
290 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374718615 CA9085441 |
290 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9085438 rs768193895 |
294 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1243584965 CA403381707 |
295 | I>N | No |
ClinGen gnomAD |
|
|
CA403381701 rs1381776326 |
296 | L>V | No |
ClinGen gnomAD |
|
|
CA9085437 rs746622983 |
297 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403381652 rs1382099998 |
299 | G>E | No |
ClinGen gnomAD |
|
|
rs1264326097 CA403381656 |
299 | G>R | No |
ClinGen TOPMed |
|
|
rs928956662 CA304423147 |
301 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9085436 rs375783304 |
302 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1444328010 CA403381543 |
306 | H>Y | No |
ClinGen gnomAD |
|
|
CA403381523 rs1189836607 |
307 | V>G | No |
ClinGen gnomAD |
|
|
CA9085433 rs778066454 |
307 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403381481 rs1388135926 |
309 | K>N | No |
ClinGen Ensembl |
|
|
CA304423044 rs867503966 |
310 | G>D | No |
ClinGen Ensembl |
|
|
CA9085397 rs766989119 |
314 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs547720682 CA9085395 |
315 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085396 rs759199322 |
315 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs748525171 CA9085393 |
317 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770236693 CA9085394 |
317 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777199822 CA9085392 |
318 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403381308 rs1468742302 |
318 | T>N | No |
ClinGen gnomAD |
|
|
CA9085391 rs769269123 |
319 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304423030 COSM178792 rs1007384778 |
319 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA403381285 rs1319624554 |
321 | R>* | No |
ClinGen gnomAD |
|
|
rs1260696062 CA403381276 |
322 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374133861 CA403381253 |
324 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374133861 CA9085387 |
324 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9085383 rs372838681 |
327 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9085385 rs372838681 |
327 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9085384 rs372838681 |
327 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403794564 CA403381192 |
327 | A>V | No |
ClinGen TOPMed |
|
|
CA403381150 rs1332085242 |
331 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304422867 rs951861871 |
335 | H>N | No |
ClinGen Ensembl |
|
|
rs1229084484 CA403380997 |
336 | V>A | No |
ClinGen gnomAD |
|
|
rs775997521 CA9085354 |
336 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1381695949 CA403380990 |
337 | A>T | No |
ClinGen gnomAD |
|
|
CA403380968 rs767064322 |
338 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9085352 rs760149262 |
338 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM3797011 rs760149262 CA403380979 COSM3797012 |
338 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA403380947 rs1298682728 |
340 | M>V | No |
ClinGen gnomAD |
|
|
CA304422864 rs918120089 |
341 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs77048445 CA304422860 |
343 | L>M | No |
ClinGen Ensembl |
|
|
CA9085351 rs774392424 |
345 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs550252601 CA9085350 |
346 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9085348 rs140632879 |
348 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304422851 rs962326982 |
350 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769576742 CA9085347 |
351 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403380755 rs1289364043 |
351 | R>H | No |
ClinGen TOPMed |
|
|
rs747902835 CA403380748 |
352 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747902835 CA9085346 |
352 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085345 rs781095789 |
354 | A>G | No |
ClinGen ExAC gnomAD |
|
| VAR_041679 | 354 | A>T | an ovarian mucinous carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs751551743 CA9085343 |
355 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403380702 rs1246478571 |
355 | A>T | No |
ClinGen gnomAD |
|
|
rs1446673737 CA403380689 |
356 | R>C | No |
ClinGen TOPMed |
|
|
rs1446673737 CA403380691 |
356 | R>G | No |
ClinGen TOPMed |
|
|
rs1248527679 CA403380675 |
357 | N>D | No |
ClinGen gnomAD |
|
|
CA304422838 rs1003204076 |
358 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758003714 CA9085341 |
361 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs750037878 CA9085340 |
363 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403380559 rs1318653471 |
366 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1165817 COSM1165818 rs1029176359 CA304422821 |
368 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA304422819 rs1010579422 |
377 | E>K | No |
ClinGen gnomAD |
|
|
CA9085335 rs201459758 |
378 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767974303 CA9085336 |
378 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9085333 rs766400646 |
379 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1479741853 CA403380418 |
379 | K>N | No |
ClinGen gnomAD |
|
|
CA9085332 rs763036889 |
380 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA403380383 rs1231560590 |
383 | S>L | No |
ClinGen gnomAD |
|
|
rs1489643614 CA403380389 |
383 | S>P | No |
ClinGen gnomAD |
|
|
rs1041475245 COSM178791 CA304422795 |
385 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA403380367 rs1198216110 |
385 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761968866 CA304422791 |
387 | P>L | No |
ClinGen Ensembl |
|
|
rs1221691782 CA403380345 |
388 | V>I | No |
ClinGen gnomAD |
|
|
rs769891104 CA9085330 |
389 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300439779 COSM1680517 COSM1680516 CA403380315 |
390 | W>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9085329 rs748448154 |
391 | T>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1214622 COSM1214623 rs1242842135 CA403380295 |
392 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 394 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403380281 rs1400666097 |
394 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs757913493 CA9085324 |
394 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9085323 rs541647241 |
399 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353479353 CA403380203 |
403 | S>G | No |
ClinGen TOPMed |
|
|
rs183239464 CA9085303 |
403 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1259087374 CA403380164 |
405 | S>L | No |
ClinGen TOPMed |
|
|
rs1445968301 CA403380128 |
408 | W>* | No |
ClinGen TOPMed |
|
|
rs1339567188 CA403380130 |
408 | W>R | No |
ClinGen gnomAD |
|
|
CA403380069 rs1490534430 |
410 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1244665204 CA403379977 |
414 | L>P | No |
ClinGen TOPMed |
|
|
COSM131780 rs777499602 CA9085300 |
415 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs755270917 CA9085299 |
415 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs751919765 CA9085297 |
417 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1442380490 CA403379910 |
419 | S>T | No |
ClinGen TOPMed |
|
|
CA9085296 rs780442262 |
422 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1420878080 CA403379847 |
422 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403379833 rs1327459385 |
423 | A>S | No |
ClinGen Ensembl |
|
|
CA304422585 rs940855145 |
424 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765179053 CA9085293 |
427 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 428 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403379615 rs1332009926 |
433 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs772743620 COSM1214620 COSM1214621 CA9085263 |
434 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9085260 rs747780125 |
437 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085257 rs779203478 |
442 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200912092 CA9085256 |
442 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs779203478 CA403379450 |
442 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377974939 CA403379415 |
443 | M>V | No |
ClinGen gnomAD |
|
|
CA403379347 rs1200817012 |
444 | E>D | No |
ClinGen gnomAD |
|
|
CA403379327 rs1568403803 |
445 | P>R | No |
ClinGen Ensembl |
|
|
COSM995680 COSM995681 CA403379313 rs1568403793 |
447 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs376394625 CA9085254 |
449 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403379227 rs1568403788 |
450 | P>A | No |
ClinGen Ensembl |
|
|
rs1458685810 CA403379210 |
451 | G>R | No |
ClinGen gnomAD |
|
|
CA9085252 rs756287133 |
453 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767859392 CA9085250 |
455 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755224369 CA9085249 |
457 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1449328141 CA403379079 |
458 | S>R | No |
ClinGen gnomAD |
|
|
rs1251566963 CA403379086 |
458 | S>T | No |
ClinGen TOPMed |
|
|
CA403379025 rs1338750597 |
461 | W>* | No |
ClinGen gnomAD |
|
|
rs751359788 CA9085248 |
463 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1484198609 CA403378968 |
464 | E>Q | No |
ClinGen gnomAD |
|
|
CA9085246 rs762904558 |
466 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773042261 CA9085245 |
467 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM995678 COSM995679 CA9085244 rs576533347 |
467 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA403378891 rs576533347 |
467 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556775350 CA9085242 |
468 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368603285 CA9085243 |
468 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403378836 rs1599192092 |
469 | P>Q | No |
ClinGen Ensembl |
|
|
rs1470986654 CA403378843 |
469 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746689148 CA9085240 |
472 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085241 rs746689148 |
472 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304422465 rs887940172 |
472 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9085239 rs774746037 |
473 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs771232691 CA9085238 |
475 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297968991 CA403378601 |
479 | A>G | No |
ClinGen TOPMed |
|
|
CA9085234 rs748236838 |
480 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756199291 CA9085235 |
480 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9085232 rs147891344 |
481 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9085230 rs148529868 |
483 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304422409 rs374552373 |
483 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403378517 rs374552373 |
483 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758139031 CA9085229 |
484 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9085228 rs750290757 |
484 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750290757 CA403378500 |
484 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403378460 rs1269068447 |
486 | G>D | No |
ClinGen Ensembl |
|
|
CA403378436 rs1273681086 |
487 | A>V | No |
ClinGen TOPMed |
|
|
rs1019817473 CA304422397 |
488 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1472816390 CA403378376 |
490 | S>A | No |
ClinGen gnomAD |
|
|
CA403378353 rs1488109587 |
491 | V>I | No |
ClinGen TOPMed |
|
|
CA9085226 rs761794365 |
492 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9085224 rs763551941 |
493 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs776096982 CA9085225 |
493 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775028525 CA9085222 |
495 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264342045 CA403378261 |
495 | D>V | No |
ClinGen gnomAD |
|
|
CA403378242 rs1289362986 |
496 | A>D | No |
ClinGen gnomAD |
|
|
CA403378245 rs35351680 |
496 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_041680 CA9085221 rs35351680 |
496 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770414207 CA9085218 |
497 | D>A | No |
ClinGen ExAC |
|
|
rs370680588 CA9085217 |
497 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773782396 CA9085219 |
497 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202048002 CA9085215 |
498 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA304422368 rs996129280 |
499 | S>C | No |
ClinGen Ensembl |
|
|
CA304422366 rs781076859 |
501 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403378130 rs781076859 |
501 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs750317160 CA9085212 |
502 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750204741 CA9085211 |
503 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750204741 CA304422359 |
503 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403378103 rs778726488 |
503 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM20506 CA9085210 rs778726488 VAR_041681 |
503 | R>Q | large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA403378057 rs1167997963 |
505 | Q>R | No |
ClinGen gnomAD |
|
|
rs1477212644 CA403378042 |
506 | E>V | No |
ClinGen gnomAD |
No associated diseases with P42679
8 regional properties for P42679
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 235 - 482 | IPR000719 |
| domain | SH2 domain | 120 - 211 | IPR000980 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 236 - 478 | IPR001245 |
| domain | SH3 domain | 48 - 110 | IPR001452 |
| active_site | Tyrosine-protein kinase, active site | 348 - 360 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 241 - 262 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 235 - 478 | IPR020635 |
| domain | CSK-like, SH2 domain | 118 - 215 | IPR035027 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction |
| protein tyrosine kinase activity | Catalysis of the reaction |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
88 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNB0 | FYN | Tyrosine-protein kinase Fyn | Bos taurus (Bovine) | SS |
| Q0VBZ0 | CSK | Tyrosine-protein kinase CSK | Bos taurus (Bovine) | SS |
| Q3ZC95 | BTK | Tyrosine-protein kinase | Bos taurus (Bovine) | EV SS |
| P42683 | LCK | Proto-oncogene tyrosine-protein kinase LCK | Gallus gallus (Chicken) | SS |
| P41239 | CSK | Tyrosine-protein kinase CSK | Gallus gallus (Chicken) | SS |
| P00523 | SRC | Proto-oncogene tyrosine-protein kinase Src | Gallus gallus (Chicken) | EV |
| Q02977 | YRK | Proto-oncogene tyrosine-protein kinase Yrk | Gallus gallus (Chicken) | SS |
| Q8JH64 | BTK | Tyrosine-protein kinase BTK | Gallus gallus (Chicken) | SS |
| P09324 | YES1 | Tyrosine-protein kinase Yes | Gallus gallus (Chicken) | SS |
| Q05876 | FYN | Tyrosine-protein kinase Fyn | Gallus gallus (Chicken) | SS |
| Q75R65 | JAK2 | Tyrosine-protein kinase JAK2 | Gallus gallus (Chicken) | SS |
| Q24592 | hop | Tyrosine-protein kinase hopscotch | Drosophila melanogaster (Fruit fly) | PR |
| Q9V9J3 | Src42A | Tyrosine-protein kinase Src42A | Drosophila melanogaster (Fruit fly) | SS |
| P00528 | Src64B | Tyrosine-protein kinase Src64B | Drosophila melanogaster (Fruit fly) | SS |
| P08630 | Btk | Tyrosine-protein kinase Btk | Drosophila melanogaster (Fruit fly) | SS |
| P23458 | JAK1 | Tyrosine-protein kinase JAK1 | Homo sapiens (Human) | SS |
| O60674 | JAK2 | Tyrosine-protein kinase JAK2 | Homo sapiens (Human) | EV |
| P52333 | JAK3 | Tyrosine-protein kinase JAK3 | Homo sapiens (Human) | SS |
| P29597 | TYK2 | Non-receptor tyrosine-protein kinase TYK2 | Homo sapiens (Human) | EV |
| P43405 | SYK | Tyrosine-protein kinase SYK | Homo sapiens (Human) | EV |
| P43403 | ZAP70 | Tyrosine-protein kinase ZAP-70 | Homo sapiens (Human) | EV |
| Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
| P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
| P07948 | LYN | Tyrosine-protein kinase Lyn | Homo sapiens (Human) | SS |
| P06241 | FYN | Tyrosine-protein kinase Fyn | Homo sapiens (Human) | SS |
| P12931 | SRC | Proto-oncogene tyrosine-protein kinase Src | Homo sapiens (Human) | EV |
| P06239 | LCK | Tyrosine-protein kinase Lck | Homo sapiens (Human) | EV |
| P51451 | BLK | Tyrosine-protein kinase Blk | Homo sapiens (Human) | SS |
| P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
| P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
| P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
| Q08881 | ITK | Tyrosine-protein kinase ITK/TSK | Homo sapiens (Human) | EV |
| Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
| P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
| P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
| P41240 | CSK | Tyrosine-protein kinase CSK | Homo sapiens (Human) | SS |
| Q14289 | PTK2B | Protein-tyrosine kinase 2-beta | Homo sapiens (Human) | PR |
| Q05397 | PTK2 | Focal adhesion kinase 1 | Homo sapiens (Human) | EV |
| Q13470 | TNK1 | Non-receptor tyrosine-protein kinase TNK1 | Homo sapiens (Human) | PR |
| Q07912 | TNK2 | Activated CDC42 kinase 1 | Homo sapiens (Human) | EV |
| P16591 | FER | Tyrosine-protein kinase Fer | Homo sapiens (Human) | PR |
| Q6J9G0 | STYK1 | Tyrosine-protein kinase STYK1 | Homo sapiens (Human) | PR |
| P42684 | ABL2 | Tyrosine-protein kinase ABL2 | Homo sapiens (Human) | SS |
| P00519 | ABL1 | Tyrosine-protein kinase ABL1 | Homo sapiens (Human) | EV |
| Q9R117 | Tyk2 | Non-receptor tyrosine-protein kinase TYK2 | Mus musculus (Mouse) | SS |
| P08103 | Hck | Tyrosine-protein kinase HCK | Mus musculus (Mouse) | SS |
| P16277 | Blk | Tyrosine-protein kinase Blk | Mus musculus (Mouse) | SS |
| Q62270 | Srms | Tyrosine-protein kinase Srms | Mus musculus (Mouse) | SS |
| Q64434 | Ptk6 | Protein-tyrosine kinase 6 | Mus musculus (Mouse) | SS |
| P05480 | Src | Proto-oncogene tyrosine-protein kinase Src | Mus musculus (Mouse) | EV |
| P14234 | Fgr | Tyrosine-protein kinase Fgr | Mus musculus (Mouse) | SS |
| P35991 | Btk | Tyrosine-protein kinase BTK | Mus musculus (Mouse) | EV |
| P41241 | Csk | Tyrosine-protein kinase CSK | Mus musculus (Mouse) | EV |
| P25911 | Lyn | Tyrosine-protein kinase Lyn | Mus musculus (Mouse) | EV |
| Q62137 | Jak3 | Tyrosine-protein kinase JAK3 | Mus musculus (Mouse) | SS |
| Q62120 | Jak2 | Tyrosine-protein kinase JAK2 | Mus musculus (Mouse) | EV |
| P06240 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Mus musculus (Mouse) | SS |
| P24604 | Tec | Tyrosine-protein kinase Tec | Mus musculus (Mouse) | SS |
| Q04736 | Yes1 | Tyrosine-protein kinase Yes | Mus musculus (Mouse) | SS |
| P39688 | Fyn | Tyrosine-protein kinase Fyn | Mus musculus (Mouse) | SS |
| P52332 | Jak1 | Tyrosine-protein kinase JAK1 | Mus musculus (Mouse) | SS |
| Q03526 | Itk | Tyrosine-protein kinase ITK/TSK | Mus musculus (Mouse) | SS |
| Q922K9 | Frk | Tyrosine-protein kinase FRK | Mus musculus (Mouse) | SS |
| P41242 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| A1Y2K1 | FYN | Tyrosine-protein kinase Fyn | Sus scrofa (Pig) | SS |
| O19064 | JAK2 | Tyrosine-protein kinase JAK2 | Sus scrofa (Pig) | SS |
| Q62662 | Frk | Tyrosine-protein kinase FRK | Rattus norvegicus (Rat) | SS |
| Q62844 | Fyn | Tyrosine-protein kinase Fyn | Rattus norvegicus (Rat) | SS |
| Q07014 | Lyn | Tyrosine-protein kinase Lyn | Rattus norvegicus (Rat) | SS |
| P50545 | Hck | Tyrosine-protein kinase HCK | Rattus norvegicus (Rat) | SS |
| Q9WUD9 | Src | Proto-oncogene tyrosine-protein kinase Src | Rattus norvegicus (Rat) | SS |
| Q01621 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Rattus norvegicus (Rat) | SS |
| Q6P6U0 | Fgr | Tyrosine-protein kinase Fgr | Rattus norvegicus (Rat) | SS |
| Q62689 | Jak2 | Tyrosine-protein kinase JAK2 | Rattus norvegicus (Rat) | SS |
| Q63272 | Jak3 | Tyrosine-protein kinase JAK3 | Rattus norvegicus (Rat) | SS |
| P32577 | Csk | Tyrosine-protein kinase CSK | Rattus norvegicus (Rat) | SS |
| F1LM93 | Yes1 | Tyrosine-protein kinase Yes | Rattus norvegicus (Rat) | SS |
| P41243 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Rattus norvegicus (Rat) | SS |
| O45539 | src-2 | Tyrosine protein-kinase src-2 | Caenorhabditis elegans | SS |
| G5EE56 | src-1 | Tyrosine protein-kinase src-1 | Caenorhabditis elegans | SS |
| Q8I7I5 | rol-3 | Protein roller-3 | Caenorhabditis elegans | PR |
| O16262 | nipi-4 | Protein nipi-4 | Caenorhabditis elegans | PR |
| G5ECJ6 | csk-1 | Tyrosine-protein kinase csk-1 | Caenorhabditis elegans | SS |
| A1A5H8 | yes1 | Tyrosine-protein kinase yes | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| F1RDG9 | fynb | Tyrosine-protein kinase fynb | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O12990 | jak1 | Tyrosine-protein kinase JAK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1JPZ3 | src | Proto-oncogene tyrosine-protein kinase Src | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6EWH2 | fyna | Tyrosine-protein kinase fyna | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGRGSLVSW | RAFHGCDSAE | ELPRVSPRFL | RAWHPPPVSA | RMPTRRWAPG | TQCITKCEHT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RPKPGELAFR | KGDVVTILEA | CENKSWYRVK | HHTSGQEGLL | AAGALREREA | LSADPKLSLM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PWFHGKISGQ | EAVQQLQPPE | DGLFLVRESA | RHPGDYVLCV | SFGRDVIHYR | VLHRDGHLTI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DEAVFFCNLM | DMVEHYSKDK | GAICTKLVRP | KRKHGTKSAE | EELARAGWLL | NLQHLTLGAQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGEGEFGAVL | QGEYLGQKVA | VKNIKCDVTA | QAFLDETAVM | TKMQHENLVR | LLGVILHQGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YIVMEHVSKG | NLVNFLRTRG | RALVNTAQLL | QFSLHVAEGM | EYLESKKLVH | RDLAARNILV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SEDLVAKVSD | FGLAKAERKG | LDSSRLPVKW | TAPEALKHGK | FTSKSDVWSF | GVLLWEVFSY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GRAPYPKMSL | KEVSEAVEKG | YRMEPPEGCP | GPVHVLMSSC | WEAEPARRPP | FRKLAEKLAR |
| 490 | 500 | ||||
| ELRSAGAPAS | VSGQDADGST | SPRSQEP |